Studies of copy-number variation and linkage disequilibrium (LD) have typically excluded
complex regions of the genome that are rich in duplications and prone to rearrangement. In …

The human genome contains numerous blocks of highly homologous duplicated sequence.
This higher-order architecture provides a substrate for recombination and recurrent …

Recent work has shown that copy number polymorphism is an important class of genetic
variation in human genomes,,,. Here we report a new method that uses SNP genotype data …

We have explored the National Center for Biotechnology Information (NCBI) single
nucleotide polymorphisms (SNPs) database for a correlation between the density of putative …

Comprehensive descriptions of large insertion/deletion or segmental duplication
polymorphisms (SDs) in the human genome have recently been generated. These …

Copy-number variants (CNVs) can reach appreciable frequencies in the human population,
and recent discoveries have shown that several of these copy-number polymorphisms …

Humans show great variation in phenotypic traits such as height, eye color and susceptibility
to disease. Genomic DNA sequence differences among individuals are responsible for the …

The prospect of using linkage disequilibrium (LD) for fine-scale mapping in humans has
attracted considerable attention, and, during the validation of a set of single-nucleotide …

Single-nucleotide polymorphisms (SNPs) may be extremely important for deciphering the
impact of genetic variation on complex human diseases. The ultimate value of SNPs for …

Human genetic variation is expected to play a central role in personalized medicine. Yet
only a fraction of the natural genetic variation that is harbored by humans has been …